Dystonia is a disabling movement disorder characterized by abnormal postures or patterned
and repetitive movements due to co-contraction of muscles in proximity to muscles desired …

Abstract Purpose of Review Since the advent of next-generation sequencing, the number of
genes associated with dystonia has been growing exponentially. We provide here a …

Background Dystonia is a clinically and genetically heterogeneous movement disorder
characterized by sustained or intermittent muscle contractions causing abnormal, often …

Dystonia is a common movement disorder involving abnormal, often twisting postures and is
a challenging condition to diagnose as we present here in a comprehensive overview. The …

Background Early evidence suggests good response to pallidal deep brain stimulation
(DBS) in DYT‐KMT2B. Objectives We aimed to conduct a systematic review and meta …

Aim & methods: To investigate peripheral blood methylation episignatures in KMT2B-related
dystonia (DYT-KMT2B), the authors undertook genome-wide methylation profiling of∼ 2 M …

Dystonia is one of the most common pediatric movement disorders and can have a profound
impact on the lives of children and their caregivers. Response to pharmacologic treatment is …

Introduction: Copy number variations (CNVs) play a critical role in the pathogenesis of
neurodevelopmental disorders (NDD) among children. In this study, we aim to identify …

The etiology of neurodevelopmental disorders (NDDs) remains a challenge for researchers.
Human brain development is tightly regulated and sensitive to cellular alterations caused by …

Animal and human brain-imaging studies have suggested a role for neurodevelopmental
abnormalities in the pathophysiology of dystonia. Variants in neurodevelopmental genes …